Symbol
Name
ID

Ryr1
ryanodine receptor 1, skeletal muscle
MGI:99659

Phenotype annotations related to respiratory system

Darker colors indicate more annotations

Human Phenotypes

Pulmonary arterial medial hypertrophy

Pulmonary aterial intimal fibrosis

Elevated pulmonary artery pressure

Pulmonary arterial hypertension

Pulmonary arterial hypertension with lack of acute response to NO challenge

Increased pulmonary vascular resistance

Pulmonary artery vasoconstriction

Recurrent respiratory infections

Respiratory insufficiency due to muscle weakness

Hypercapnia

Dyspnea

Exertional dyspnea

Tachypnea

Pulmonary hypoplasia

Cough

Respiratory insufficiency

Neonatal respiratory distress

Disease(s) Associated with RYR1

congenital myopathy 1A

congenital myopathy 1B

malignant hyperthermia

primary pulmonary hypertension

Mouse Phenotypes		increased pulmonary respiratory rate	respiratory distress	respiratory failure
Availability	Mouse Genotype	increased pulmonary respiratory rate	respiratory distress	respiratory failure
	Ryr1^tm1Tno/Ryr1^tm1Tno
	Ryr1^tm1.1Dhm/Ryr1⁺
	Ryr1^tm2.1Alle/Ryr1⁺

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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